title: [Hadju-Cheney syndrome: kidney disturbs in a case report].
abstract: Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function.
authors.affiliation: Hospital Universitário Walter Cantídeo, Fortaleza, CE, Brasil. elidadantas@yahoo.com.br
authors.forename: Élida Lívia Rafael
authors.initials: ÉL
authors.lastname: Dantas
authors.forename: Mário Lima
authors.initials: ML
authors.lastname: Pontes
authors.forename: Paula Francinetti Camurça Castelo Branco
authors.initials: PF
authors.lastname: Fernandes
authors.forename: Erlane Marques
authors.initials: EM
authors.lastname: Ribeiro
authors.forename: Elizabeth de Francesco
authors.initials: Ede F
authors.lastname: Daher
mesh_terms: D000328:Adult; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications* / Q000175:diagnosis; D031845:Hajdu-Cheney Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D051437:Renal Insufficiency / Q000150:complications* / Q000175:diagnosis